Seizures are often difficult to control (refractory). Seizure types may include infantile spasms. Patients frequently have a mix of focal and generalized seizures over time, and often seizures with multiple distinct phases.

During our monthly CDKL5 clinics, children can meet with a variety of specialists to develop a personalized treatment plan to guide their local educational, therapeutic and medical teams. We can also help in assessing genetic test results and diagnosis when appropriate.

Though CDKL5 is a distinct disorder, patients have symptoms in common with other genetic epilepsies and neurodevelopmental disorders such as Rett syndrome. We work in parallel with Boston Children’s Rett syndrome clinic and the Epilepsy Genetics Program.

A secondary purpose of our clinic is to gain a better understanding of CDKL5. We are collaborating with other CDKL5 Centers of Excellence and IFCR for a clinic-based research project that will allow us to learn by following patients and tracking their progress over time. Our goal is to have our research enhance clinical care for children with CDKL5 mutations.

How can I have my child seen at the CDKL5 Center?

Please give us a call! From there, we can determine which specialists are most appropriate for your child to see. We then ask that you provide your child’s medical records and complete an intake form so we can best prepare for your child’s visit.

We hold clinics once per month on the third Thursday and Friday of the month. Children usually spread their visits over two days, but some can do them in one day depending on the appointments needed. Your child will see each of the necessary specialists separately, but all in one building.

Some children may require more frequent follow-up visits. Families living far from Boston can use clinic visits as consultations and return every six to 12 months, continuing regular care with their local team. Our team will work with your family to determine the best visit schedule for your child.

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